Property Summary

NCBI Gene PubMed Count 14
Grant Count 4
R01 Count 4
Funding $216,717.25
PubMed Score 13.15
PubTator Score 7.29

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9BV10 A6PWM1 Q4KMH4 Q8NG10 Q96AA4
Symbols CDG1G
ECM39
hALG12
PP14673

Gene

PANTHER Protein Class (2)

Gene RIF (2)

PMID Text
12093361 this enzyme has a role in glycosylation and its deficiency causes congenital disorder of glycosylation type Ig
11983712 deficiency results in congenital disorders of glycosylation type Ig

AA Sequence

MAGKGSSGRRPLLLGLLVAVATVHLVICPYTKVEESFNLQATHDLLYHWQDLEQYDHLEFPGVVPRTFLG      1 - 70
PVVIAVFSSPAVYVLSLLEMSKFYSQLIVRGVLGLGVIFGLWTLQKEVRRHFGAMVATMFCWVTAMQFHL     71 - 140
MFYCTRTLPNVLALPVVLLALAAWLRHEWARFIWLSAFAIIVFRVELCLFLGLLLLLALGNRKVSVVRAL    141 - 210
RHAVPAGILCLGLTVAVDSYFWRQLTWPEGKVLWYNTVLNKSSNWGTSPLLWYFYSALPRGLGCSLLFIP    211 - 280
LGLVDRRTHAPTVLALGFMALYSLLPHKELRFIIYAFPMLNITAARGCSYLLNNYKKSWLYKAGSLLVIG    281 - 350
HLVVNAAYSATALYVSHFNYPGGVAMQRLHQLVPPQTDVLLHIDVAAAQTGVSRFLQVNSAWRYDKREDV    351 - 420
QPGTGMLAYTHILMEAAPGLLALYRDTHRVLASVVGTTGVSLNLTQLPPFNVHLQTKLVLLERLPRPS      421 - 488
//

Text Mined References (14)

PMID Year Title
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
19946888 2010 Defining the membrane proteome of NK cells.
17506107 2007 Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
15498874 2004 Large-scale cDNA transfection screening for genes related to cancer development and progression.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15273506 2004 Congenital disorders of glycosylation: a booming chapter of pediatrics.
15272470 2004 Congenital disorders of glycosylation (CDG): update and new developments.
12736397 2003 Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
More...